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Conjunctiva and cornea contain typical cystinotic crystals;elevated white cell 1/2 cystine concentration;normal renal function at age 10;but by age 13 developed renal glomerular insufficiency;similarly affected brother;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 753 in exon 7 of the CTNS gene 753G>A resulting in a substitution of a termination codon for tryptophan at codon 138 Trp138Ter (W138X) and a second allele has a splice site mutation at the +2 position of exon 11 IVS11+2 T>C resulting in the skipping of exon 11.
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